Canonical Allele Identifier: CA10604978
Community Standard Title: NM_002241.5(KCNJ10):c.435G>T (p.Val145=)
Gene: KCNJ10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160042098C>A , CM000663.2:g.160042098C>A GRCh38
NC_000001.10:g.160011888C>A , CM000663.1:g.160011888C>A GRCh37
NC_000001.9:g.158278512C>A NCBI36
NG_016411.1:g.33074G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002241.5:c.435G>T MANE Select NP_002232.2:p.Val145=
ENST00000644903.1:c.435G>T MANE Select ENSP00000495557.1:p.Val145=
NM_002241.4:c.435G>T NP_002232.2:p.Val145=
ENST00000368089.3:c.435G>T ENSP00000357068.3:p.Val145=
ENST00000509700.1:n.198G>T
ENST00000509700.2:c.407G>T
ENST00000636689.1:n.95-2750G>T
ENST00000637644.1:c.435G>T ENSP00000490282.1:p.Val145=
ENST00000638728.1:c.435G>T ENSP00000492619.1:p.Val145=
ENST00000638840.1:c.157G>T
ENST00000638868.1:c.435G>T ENSP00000491250.1:p.Val145=
ENST00000639408.1:c.435G>T ENSP00000491635.1:p.Val145=
ENST00000640017.1:c.405G>T ENSP00000491337.1:p.Val135=